Abstract
The term limb-girdle muscular dystrophies (LGMD) identify about two dozens of distinct genetic disorders. Additional genes must play a role, since there are LGMD families excluded from any known locus. The aim of our work is to test a number of candidate genes in unclassified LGMD patient and control DNA samples. We selected the following 11 candidate genes: myozenin 1, 2 and 3), gamma-filamin, kinectin-1, enolase-3 beta, ZASP, TRIM 11 and TRIM 17, OZZ and zeta -sarcoglycan. These candidates were chosen for a combination of different reasons: chromosomal position, sequence homology, interaction properties or muscular dystrophy phenotypes in animal models. The exon and flanking intron sequences were subjected to molecular testing by comparative mutation scanning by HT-DHPLC of LGMD patients versus control. We identified a large number of variations hi any of the genes in both patients and controls. Correlations with disease or possible modifying effects on the LGMD phenotype remain to be investigated.
| Original language | English |
|---|---|
| Pages (from-to) | 90-97 |
| Number of pages | 8 |
| Journal | Acta Myologica |
| Volume | 27 |
| Issue number | DEC. |
| Publication status | Published - Dec 2008 |
Fingerprint
Keywords
- Limb-girdle muscular dystrophies
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine
Cite this
Candidate-gene testing for orphan limb-girdle muscular dystrophies. / Aurino, S.; Piluso, G.; Saccone, V.; Cacciottolo, M.; D'Amico, F.; Dionisi, M.; Totaro, A.; Belsito, A.; Di Vicino, U.; Nigro, Vincenzo.
In: Acta Myologica, Vol. 27, No. DEC., 12.2008, p. 90-97.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Candidate-gene testing for orphan limb-girdle muscular dystrophies
AU - Aurino, S.
AU - Piluso, G.
AU - Saccone, V.
AU - Cacciottolo, M.
AU - D'Amico, F.
AU - Dionisi, M.
AU - Totaro, A.
AU - Belsito, A.
AU - Di Vicino, U.
AU - Nigro, Vincenzo
PY - 2008/12
Y1 - 2008/12
N2 - The term limb-girdle muscular dystrophies (LGMD) identify about two dozens of distinct genetic disorders. Additional genes must play a role, since there are LGMD families excluded from any known locus. The aim of our work is to test a number of candidate genes in unclassified LGMD patient and control DNA samples. We selected the following 11 candidate genes: myozenin 1, 2 and 3), gamma-filamin, kinectin-1, enolase-3 beta, ZASP, TRIM 11 and TRIM 17, OZZ and zeta -sarcoglycan. These candidates were chosen for a combination of different reasons: chromosomal position, sequence homology, interaction properties or muscular dystrophy phenotypes in animal models. The exon and flanking intron sequences were subjected to molecular testing by comparative mutation scanning by HT-DHPLC of LGMD patients versus control. We identified a large number of variations hi any of the genes in both patients and controls. Correlations with disease or possible modifying effects on the LGMD phenotype remain to be investigated.
AB - The term limb-girdle muscular dystrophies (LGMD) identify about two dozens of distinct genetic disorders. Additional genes must play a role, since there are LGMD families excluded from any known locus. The aim of our work is to test a number of candidate genes in unclassified LGMD patient and control DNA samples. We selected the following 11 candidate genes: myozenin 1, 2 and 3), gamma-filamin, kinectin-1, enolase-3 beta, ZASP, TRIM 11 and TRIM 17, OZZ and zeta -sarcoglycan. These candidates were chosen for a combination of different reasons: chromosomal position, sequence homology, interaction properties or muscular dystrophy phenotypes in animal models. The exon and flanking intron sequences were subjected to molecular testing by comparative mutation scanning by HT-DHPLC of LGMD patients versus control. We identified a large number of variations hi any of the genes in both patients and controls. Correlations with disease or possible modifying effects on the LGMD phenotype remain to be investigated.
KW - Limb-girdle muscular dystrophies
UR - http://www.scopus.com/inward/record.url?scp=64949099894&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=64949099894&partnerID=8YFLogxK
M3 - Article
C2 - 19472918
AN - SCOPUS:64949099894
VL - 27
SP - 90
EP - 97
JO - Acta Myologica
JF - Acta Myologica
SN - 1128-2460
IS - DEC.
ER -